Bovine, Canine, Equine, Guinea pig, Human, Mouse, Rat
Immunogen:
The immunogen is a synthetic peptide directed towards the middle region of human HAX1
Alternative Names:
SCN3, HS1BP1, HCLSBP1
HAX1 is known to associate with hematopoietic cell-specific Lyn substrate 1, a substrate of Src family tyrosine kinases. It also interacts with the product of the polycystic kidney disease 2 gene, mutations in which are associated with autosomal-dominant polycystic kidney disease, and with the F-actin-binding protein, cortactin. It was earlier thought that this gene product is mainly localized in the mitochondria, however, recent studies indicate it to be localized in the cell body. Mutations in this gene result in autosomal recessive severe congenital neutropenia, also known as Kostmann disease.The protein encoded by this gene is known to associate with hematopoietic cell-specific Lyn substrate 1, a substrate of Src family tyrosine kinases. It also interacts with the product of the polycystic kidney disease 2 gene, mutations in which are associated with autosomal-dominant polycystic kidney disease, and with the F-actin-binding protein, cortactin. It was earlier thought that this gene product is mainly localized in the mitochondria, however, recent studies indicate it to be localized in the cell body. Mutations in this gene result in autosomal recessive severe congenital neutropenia, also known as Kostmann disease. Two transcript variants encoding different isoforms have been found for this gene.
WB Suggested Anti-HAX1 Antibody Titration: 0.2-1 ug/ml ELISA Titer: 1:62500 Positive Control: COLO205 cell lysateHAX1 is supported by BioGPS gene expression data to be expressed in COLO205